renal hypoplasia/aplasia Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Absence or underdevelopment of the kidney. (Human Phenotype Ontology, HP_0008678)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0008678
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Genes

147 genes associated with the renal hypoplasia/aplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ANOS1 anosmin 1
ARID1A AT rich interactive domain 1A (SWI-like)
ARID1B AT rich interactive domain 1B (SWI1-like)
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
ARX aristaless related homeobox
ATRX alpha thalassemia/mental retardation syndrome X-linked
B3GALTL beta 1,3-galactosyltransferase-like
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BCOR BCL6 corepressor
BMP4 bone morphogenetic protein 4
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
CD96 CD96 molecule
CHD7 chromodomain helicase DNA binding protein 7
CLIP2 CAP-GLY domain containing linker protein 2
COMT catechol-O-methyltransferase
DCHS1 dachsous cadherin-related 1
DHCR24 24-dehydrocholesterol reductase
DHCR7 7-dehydrocholesterol reductase
DUSP6 dual specificity phosphatase 6
ELN elastin
ERCC4 excision repair cross-complementation group 4
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
EYA1 EYA transcriptional coactivator and phosphatase 1
FAM111A family with sequence similarity 111, member A
FAM58A family with sequence similarity 58, member A
FANCA Fanconi anemia, complementation group A
FANCB Fanconi anemia, complementation group B
FANCC Fanconi anemia, complementation group C
FANCD2 Fanconi anemia, complementation group D2
FANCE Fanconi anemia, complementation group E
FANCF Fanconi anemia, complementation group F
FANCG Fanconi anemia, complementation group G
FANCI Fanconi anemia, complementation group I
FANCL Fanconi anemia, complementation group L
FANCM Fanconi anemia, complementation group M
FAT4 FAT atypical cadherin 4
FEZF1 FEZ family zinc finger 1
FGF10 fibroblast growth factor 10
FGF17 fibroblast growth factor 17
FGF20 fibroblast growth factor 20
FGF8 fibroblast growth factor 8 (androgen-induced)
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FLII flightless I homolog (Drosophila)
FLRT3 fibronectin leucine rich transmembrane protein 3
FRAS1 Fraser extracellular matrix complex subunit 1
FREM2 FRAS1 related extracellular matrix protein 2
FUZ fuzzy planar cell polarity protein
GATA3 GATA binding protein 3
GDF3 growth differentiation factor 3
GDF6 growth differentiation factor 6
GLI3 GLI family zinc finger 3
GP1BB glycoprotein Ib (platelet), beta polypeptide
GRIP1 glutamate receptor interacting protein 1
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HESX1 HESX homeobox 1
HIRA histone cell cycle regulator
HMGA2 high mobility group AT-hook 2
HNF1B HNF1 homeobox B
HOXD13 homeobox D13
HS6ST1 heparan sulfate 6-O-sulfotransferase 1
IL17RD interleukin 17 receptor D
INSL3 insulin-like 3 (Leydig cell)
ITGA8 integrin, alpha 8
JAG1 jagged 1
KCTD1 potassium channel tetramerization domain containing 1
KDM6A lysine (K)-specific demethylase 6A
KISS1R KISS1 receptor
KMT2D lysine (K)-specific methyltransferase 2D
LEMD3 LEM domain containing 3
LHX1 LIM homeobox 1
LIMK1 LIM domain kinase 1
LRP4 low density lipoprotein receptor-related protein 4
MBTPS2 membrane-bound transcription factor peptidase, site 2
MCPH1 microcephalin 1
MEOX1 mesenchyme homeobox 1
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
MUC1 mucin 1, cell surface associated
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NIPBL Nipped-B homolog (Drosophila)
NSDHL NAD(P) dependent steroid dehydrogenase-like
NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor
PALB2 partner and localizer of BRCA2
PAX1 paired box 1
PAX2 paired box 2
PDE6D phosphodiesterase 6D, cGMP-specific, rod, delta
PHGDH phosphoglycerate dehydrogenase
PIEZO2 piezo-type mechanosensitive ion channel component 2
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PKHD1 polycystic kidney and hepatic disease 1 (autosomal recessive)
PORCN porcupine homolog (Drosophila)
PQBP1 polyglutamine binding protein 1
PROK2 prokineticin 2
PROKR2 prokineticin receptor 2
PTEN phosphatase and tensin homolog
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PUF60 poly-U binding splicing factor 60KDa
RAB40AL RAB40A, member RAS oncogene family-like
RAD51C RAD51 paralog C
RAI1 retinoic acid induced 1
RARB retinoic acid receptor, beta
REN renin
RET ret proto-oncogene
RFC2 replication factor C (activator 1) 2, 40kDa
RIPK4 receptor-interacting serine-threonine kinase 4
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
ROBO2 roundabout, axon guidance receptor, homolog 2 (Drosophila)
RPL26 ribosomal protein L26
RXFP2 relaxin/insulin-like family peptide receptor 2
SALL1 spalt-like transcription factor 1
SALL4 spalt-like transcription factor 4
SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SF3B4 splicing factor 3b, subunit 4, 49kDa
SHH sonic hedgehog
SIX1 SIX homeobox 1
SIX5 SIX homeobox 5
SIX6 SIX homeobox 6
SLX4 SLX4 structure-specific endonuclease subunit
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
SOX10 SRY (sex determining region Y)-box 10
SOX11 SRY (sex determining region Y)-box 11
SPRY4 sprouty homolog 4 (Drosophila)
STRA6 stimulated by retinoic acid 6
STS steroid sulfatase (microsomal), isozyme S
TACR3 tachykinin receptor 3
TBC1D24 TBC1 domain family, member 24
TBL2 transducin (beta)-like 2
TBX1 T-box 1
TBX3 T-box 3
TBX6 T-box 6
TCTN3 tectonic family member 3
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TP63 tumor protein p63
UFD1L ubiquitin fusion degradation 1 like (yeast)
VANGL1 VANGL planar cell polarity protein 1
WDR11 WD repeat domain 11
WDR19 WD repeat domain 19
WNT3 wingless-type MMTV integration site family, member 3
WNT4 wingless-type MMTV integration site family, member 4